{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345413693",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=627605[alleleid]",
        "alleleId": 627605,
        "preferredName": "NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/665174",
        "RCV": [
          "RCV002535983"
        ],
        "variationId": 665174
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237947601A>C?assembly=hg19",
        "id": "chr1:g.237947601A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237784301A>C?assembly=hg38",
        "id": "chr1:g.237784301A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765238394",
        "rs": 765238394
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 237784301,
          "referenceAllele": "A",
          "start": 237784300
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237784301A>C",
        "CM000663.2:g.237784301A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 237947601,
          "referenceAllele": "A",
          "start": 237947600
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237947601A>C",
        "CM000663.1:g.237947601A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 236014224,
          "referenceAllele": "A",
          "start": 236014223
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236014224A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 746900,
          "referenceAllele": "A",
          "start": 746899
        }
      ],
      "hgvs": [
        "NG_008799.2:g.746900A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 747118,
          "referenceAllele": "A",
          "start": 747117
        }
      ],
      "hgvs": [
        "NG_008799.3:g.747118A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12869,
          "referenceAllele": "A",
          "start": 12868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*3681A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*3681A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12915,
          "referenceAllele": "A",
          "start": 12914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.12577A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Ile4193Leu",
        "hgvsWellDefined": "ENSP00000499653.3:p.Ile4193Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12948,
          "referenceAllele": "A",
          "start": 12947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.12610A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Ile4204Leu",
        "hgvsWellDefined": "ENSP00000499787.2:p.Ile4204Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4766,
          "referenceAllele": "A",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.4766A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12927,
          "referenceAllele": "A",
          "start": 12926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.12589A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Ile4197Leu",
        "hgvsWellDefined": "ENSP00000355533.2:p.Ile4197Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.12589A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.12589A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Ile4197Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Ile4197Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4766,
          "referenceAllele": "A",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.4766A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2642,
          "referenceAllele": "A",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.1:c.2642A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12541,
          "referenceAllele": "A",
          "start": 12540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.12541A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Ile4181Leu",
        "hgvsWellDefined": "ENSP00000353174.7:p.Ile4181Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12906,
          "referenceAllele": "A",
          "start": 12905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.12589A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Ile4197Leu",
        "hgvsWellDefined": "ENSP00000355533.2:p.Ile4197Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3784,
          "referenceAllele": "A",
          "start": 3783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.3784A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915953601",
      "coordinates": [
        {
          "allele": "C",
          "end": 12709,
          "referenceAllele": "A",
          "start": 12708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.12589A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Ile4197Leu",
        "hgvsWellDefined": "NP_001026.2:p.Ile4197Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12884,
          "referenceAllele": "A",
          "start": 12883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.12643A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Ile4215Leu",
        "hgvsWellDefined": "XP_006711865.1:p.Ile4215Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12881,
          "referenceAllele": "A",
          "start": 12880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.12640A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Ile4214Leu",
        "hgvsWellDefined": "XP_006711866.1:p.Ile4214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12859,
          "referenceAllele": "A",
          "start": 12858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.12619A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Ile4207Leu",
        "hgvsWellDefined": "XP_006711867.1:p.Ile4207Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12849,
          "referenceAllele": "A",
          "start": 12848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.12613A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Ile4205Leu",
        "hgvsWellDefined": "XP_006711868.1:p.Ile4205Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12848,
          "referenceAllele": "A",
          "start": 12847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.12607A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Ile4203Leu",
        "hgvsWellDefined": "XP_006711869.1:p.Ile4203Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12824,
          "referenceAllele": "A",
          "start": 12823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.12583A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Ile4195Leu",
        "hgvsWellDefined": "XP_006711870.1:p.Ile4195Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12645,
          "referenceAllele": "A",
          "start": 12644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.12406A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Ile4136Leu",
        "hgvsWellDefined": "XP_006711871.1:p.Ile4136Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12790,
          "referenceAllele": "A",
          "start": 12789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.12550A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Ile4184Leu",
        "hgvsWellDefined": "XP_006711873.1:p.Ile4184Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12957,
          "referenceAllele": "A",
          "start": 12956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.12643A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Ile4215Leu",
        "hgvsWellDefined": "XP_006711865.1:p.Ile4215Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12954,
          "referenceAllele": "A",
          "start": 12953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.12640A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Ile4214Leu",
        "hgvsWellDefined": "XP_006711866.1:p.Ile4214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12933,
          "referenceAllele": "A",
          "start": 12932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.12619A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Ile4207Leu",
        "hgvsWellDefined": "XP_006711867.1:p.Ile4207Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12927,
          "referenceAllele": "A",
          "start": 12926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.12613A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Ile4205Leu",
        "hgvsWellDefined": "XP_006711868.1:p.Ile4205Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12921,
          "referenceAllele": "A",
          "start": 12920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.12607A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Ile4203Leu",
        "hgvsWellDefined": "XP_006711869.1:p.Ile4203Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12897,
          "referenceAllele": "A",
          "start": 12896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.12583A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Ile4195Leu",
        "hgvsWellDefined": "XP_006711870.1:p.Ile4195Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12720,
          "referenceAllele": "A",
          "start": 12719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.12406A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Ile4136Leu",
        "hgvsWellDefined": "XP_006711871.1:p.Ile4136Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12864,
          "referenceAllele": "A",
          "start": 12863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.12550A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Ile4184Leu",
        "hgvsWellDefined": "XP_006711873.1:p.Ile4184Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12936,
          "referenceAllele": "A",
          "start": 12935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.12622A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Ile4208Leu",
        "hgvsWellDefined": "XP_016857517.1:p.Ile4208Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915953601",
      "coordinates": [
        {
          "allele": "C",
          "end": 12927,
          "referenceAllele": "A",
          "start": 12926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.12589A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Ile4197Leu",
        "hgvsWellDefined": "NP_001026.2:p.Ile4197Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.12589A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.12589A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Ile4197Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Ile4197Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}